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目的主要对钠离子通道基因(SCN5A基因)A29A和D1819D多态性与中国新疆地区汉族、哈萨克族、维吾尔族先天性心脏病(简称先心病)发病的相关性进行分析。方法健康儿童(健康组)350例(维吾尔族145例,汉族110例,哈萨克族95例),先心病儿童(先心病组)350例(维吾尔族145例,汉族110例,哈萨克族95例),进行聚合酶链反应扩增SCN5A基因所有外显子序列,对其产物进行核酸序列检测,对检测到的位点进行统计学分析。结果新疆地区儿童中发现9个单核苷酸多态位点(SNPs),通过对多态位点A29A和D1819D进行统计分析,汉族、哈萨克族、维吾尔族健康儿童中A29A和D1819D的基因型频率和等位基因频率差异有统计学意义(P<0.05),汉族、哈萨克族基因型频率和等位基因频率差异无统计学意义(P>0.05)。A29A和D1819D的等位基因频率和基因型频率在汉族、维吾尔族先心病组和健康组中分布均有统计学意义(P<0.05),A29A等位基因频率和基因型频率在哈萨克族先心病组和健康组中分布均无统计学意义(P>0.05),D1819D基因型频率也无统计学意义(P>0.05),但等位基因频率有统计学意义(P<0.05)。结论 SCN5A基因A29A、D1819D位点在新疆汉、维吾尔族先心病人群中存在多态性,D1819D可能在哈萨克族先心病人群中存在多态性,SCN5A基因可能是新疆地区先心病发病的易感基因。
Objective To analyze the association between the A29A and D1819D polymorphisms of the sodium ion channel gene (SCN5A gene) and the Han, Kazak and Uighur congenital heart disease (CHD) in Xinjiang of China. Methods 350 healthy children (healthy group) (350 Uygur, 110 Han and 95 Kazakh), 350 children with congenital heart disease (145 cases of Uyghur, 110 Han and 95 Kazakh) , Amplifying all the exon sequences of SCN5A gene by polymerase chain reaction, detecting the nucleic acid sequence of the product, and performing statistical analysis on the detected loci. Results Nine single nucleotide polymorphisms (SNPs) were found in children in Xinjiang. Based on statistical analysis of A29A and D1819D polymorphisms, the genotype frequencies of A29A and D1819D in Han, Kazak, and Uigur children (P <0.05). There was no significant difference in genotype frequency and allele frequency between Han and Kazak (P> 0.05). The allele frequency and genotype frequency of A29A and D1819D were significantly different between Han and Uighur CHD group and healthy group (P <0.05). The A29A allele frequency and genotype frequency were significantly different between Kazakh heart disease (P> 0.05). The frequency of D1819D genotype was also not statistically significant (P> 0.05), but the frequency of allele was statistically significant (P <0.05). Conclusion A29A and D1819D loci of SCN5A gene are polymorphic in Xinjiang Han and Uigur people with congenital heart disease. D1819D may be a polymorphism in Kazak people with congenital heart disease. SCN5A gene may be a susceptibility gene of congenital heart disease in Xinjiang .